Scientific articles

International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J, Fontaine B, Hemmer B, Martin C, Zipp F, D'Alfonso S, Martinelli-Boneschi F, Taylor B, Harbo HF, Kockum I, Hillert J, Olsson T, Ban M, Oksenberg JR, Hintzen R, Barcellos LF; Wellcome Trust Case Control Consortium 2 (WTCCC2); International IBD Genetics Consortium (IIBDGC), Agliardi C, Alfredsson L, Alizadeh M, Anderson C, Andrews R, Søndergaard HB, Baker A, Band G, Baranzini SE, Barizzone N, Barrett J, Bellenguez C, Bergamaschi L, Bernardinelli L, Berthele A, Biberacher V, Binder TM, Blackburn H, Bomfim IL, Brambilla P, Broadley S, Brochet B, Brundin L, Buck D, Butzkueven H, Caillier SJ, Camu W, Carpentier W, Cavalla P, Celius EG, Coman I, Comi G, Corrado L, Cosemans L, Cournu-Rebeix I, Cree BA, Cusi D, Damotte V, Defer G, Delgado SR, Deloukas P, di Sapio A, Dilthey AT, Donnelly P, Dubois B, Duddy M, Edkins S, Elovaara I, Esposito F, Evangelou N, Fiddes B, Field J, Franke A, Freeman C, Frohlich IY, Galimberti D, Gieger C, Gourraud PA, Graetz C, Graham A, Grummel V, Guaschino C, Hadjixenofontos A, Hakonarson H, Halfpenny C, Hall G, Hall P, Hamsten A, Harley J, Harrower T, Hawkins C, Hellenthal G, Hillier C, Hobart J, Hoshi M, Hunt SE, Jagodic M, Jelčić I, Jochim A, Kendall B, Kermode A, Kilpatrick T, Koivisto K, Konidari I, Korn T, Kronsbein H, Langford C, Larsson M, Lathrop M, Lebrun-Frenay C, Lechner-Scott J, Lee MH, Leone MA, Leppä V, Liberatore G, Lie BA, Lill CM, Lindén M, Link J, Luessi F, Lycke J, Macciardi F, Männistö S, Manrique CP, Martin R, Martinelli V, Mason D, Mazibrada G, McCabe C, Mero IL, Mescheriakova J, Moutsianas L, Myhr KM, Nagels G, Nicholas R, Nilsson P, Piehl F, Pirinen M, Price SE, Quach H, Reunanen M, Robberecht W, Robertson NP, Rodegher M, Rog D, Salvetti M, Schnetz-Boutaud NC, Sellebjerg F, Selter RC, Schaefer C, Shaunak S, Shen L, Shields S, Siffrin V, Slee M, Sorensen PS, Sorosina M, Sospedra M, Spurkland A, Strange A, Sundqvist E, Thijs V, Thorpe J, Ticca A, Tienari P, van Duijn C, Visser EM, Vucic S, Westerlind H, Wiley JS, Wilkins A, Wilson JF, Winkelmann J, Zajicek J, Zindler E, Haines JL, Pericak-Vance MA, Ivinson AJ, Stewart G, Hafler D, Hauser SL, Compston A, McVean G, De Jager P, Sawcer SJ, McCauley JL. Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet. 2013 Nov;45(11):1353-60.

Ban M, Caillier S, Mero IL, Myhr KM, Celius EG, Aarseth J, Torkildsen Ø, Harbo HF, Oksenberg J, Hauser SL, Sawcer S, Compston A. No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis. Ann Neurol. 2013 Mar;73(3):430-2.

Leikfoss IS, Mero IL, Dahle MK, Lie BA, Harbo HF, Spurkland A, Berge T. Multiple sclerosis-associated single-nucleotide polymorphisms in CLEC16A correlate with reduced SOCS1 and DEXI expression in the thymus. Genes Immun. 2013 Jan;14(1):62-6.

Nordang GB, Flåm ST, Maehlen MT, Kvien TK, Viken MK, Lie BA. HLA-C alleles confer risk for anti-citrullinated peptide antibody-positive rheumatoid arthritis independent of HLA-DRB1 alleles. Rheumatology (Oxford). 2013 Nov;52(11):1973-82.

Teruel M, McKinney C, Balsa A, Pascual-Salcedo D, Rodriguez-Rodriguez L, Ortiz AM, Gómez-Vaquero C, González-Gay MA, Smith M, Witte T, Merriman T, Lie BA, Martin J. Association of CD247 polymorphisms with rheumatoid arthritis: a replication study and a meta-analysis. PLoS One. 2013 Jul 5;8(7):e68295.

International Genetics of Ankylosing Spondylitis Consortium (IGAS), Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, Cremin K, Pryce K, Harris J, Lee S, Joo KB, Shim SC, Weisman M, Ward M, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Jiang L, Liu Y, Wu X, Bradbury LA, Elewaut D, Burgos-Vargas R, Stebbings S, Appleton L, Farrah C, Lau J, Kenna TJ, Haroon N, Ferreira MA, Yang J, Mulero J, Fernandez-Sueiro JL, Gonzalez-Gay MA, Lopez-Larrea C, Deloukas P, Donnelly P; Australo-Anglo-American Spondyloarthritis Consortium (TASC); Groupe Française d'Etude Génétique des Spondylarthrites (GFEGS); Nord-Trøndelag Health Study (HUNT); Spondyloarthritis Research Consortium of Canada (SPARCC); Wellcome Trust Case Control Consortium 2 (WTCCC2), Bowness P, Gafney K, Gaston H, Gladman DD, Rahman P, Maksymowych WP, Xu H, Crusius JB, van der Horst-Bruinsma IE, Chou CT, Valle-Oñate R, Romero-Sánchez C, Hansen IM, Pimentel-Santos FM, Inman RD, Videm V, Martin J, Breban M, Reveille JD, Evans DM, Kim TH, Wordsworth BP, Brown MA. Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nat Genet. 2013 Jul;45(7):730-8. doi: 10.1038/ng.2667. Epub 2013 Jun 9.

Omair A, Holden M, Lie BA, Reikeras O, Brox JI. Treatment outcome of chronic low back pain and radiographic lumbar disc degeneration are associated with inflammatory and matrix degrading gene variants: a prospective genetic association study. BMC Musculoskelet Disord. 2013 Mar 22;14:105. doi: 10.1186/1471-2474-14-105.

Flåm ST, Gunnarsson R, Garen T; Norwegian MCTD Study Group, Lie BA, Molberg O. The HLA profiles of mixed connective tissue disease differ distinctly from the profiles of clinically related connective tissue diseases. Rheumatology (Oxford). 2014 Sep 3. pii: keu310. [Epub ahead of print]

Maehlen MT, Olsen IC, Andreassen BK, Viken MK, Jiang X, Alfredsson L, Källberg H, Brynedal B, Kurreeman F, Daha N, Toes R, Zhernakova A, Gutierrez-Achury J, de Bakker PI, Martin J, Teruel M, Gonzalez-Gay MA, Rodríguez-Rodríguez L, Balsa A, Uhlig T, Kvien TK, Lie BA. Genetic risk scores and number of autoantibodies in patients with rheumatoid arthritis. Ann Rheum Dis. 2013 Dec 13. [Epub ahead of print]

Serrano A, Márquez A, Mackie SL, Carmona FD, Solans R, Miranda-Filloy JA, Hernández-Rodríguez J, Cid MC, Castañeda S, Morado IC, Narváez J, Blanco R, Sopeña B, García-Villanueva MJ, Monfort J, Ortego-Centeno N, Unzurrunzaga A, Marí-Alfonso B, Sánchez-Martín J, de Miguel E, Magro C, Raya E, Braun N, Latus J, Molberg O, Lie BA, Moosig F, Witte T, Morgan AW, González-Gay MA, Martín J; UK GCA Consortium Spanish GCA Consortium. Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis. Ann Rheum Dis. 2013 Nov;72(11):1882-6.

Mero IL, Smestad C, Lie BA, Lorentzen ÅR, Sandvik L, Landrø NI, Aarseth JH, Myhr KM, Celius EG, Harbo HF. Polymorphisms of the BDNF gene show neither association with multiple sclerosis susceptibility nor clinical course. J Neuroimmunol. 2012 Mar;244(1-2):107-10.

Maniaol AH, Elsais A, Lorentzen ÅR, Owe JF, Viken MK, Sæther H, Flåm ST, Bråthen G, Kampman MT, Midgard R, Christensen M, Rognerud A, Kerty E, Gilhus NE, Tallaksen CM, Lie BA, Harbo HF. Late onset myasthenia gravis is associated with HLA DRB1*15:01 in the Norwegian population. PLoS One. 2012;7(5):e36603.

Link J, Kockum I, Lorentzen AR, Lie BA, Celius EG, Westerlind H, Schaffer M, Alfredsson L, Olsson T, Brynedal B, Harbo HF, Hillert J. Importance of human leukocyte antigen (HLA) class I and II alleles on the risk of multiple sclerosis. PLoS One. 2012;7(5):e36779.

Nordang GB, Carpenter D, Viken MK, Kvien TK, Armour JA, Lie BA. Association analysis of the CCL3L1 copy number locus by paralogue ratio test in Norwegian rheumatoid arthritis patients and healthy controls. Genes Immun. 2012 Oct;13(7):579-82. doi: 10.1038/gene.2012.30. Epub 2012 Jul 12.

Omair A, Lie BA, Reikeras O, Brox JI. An Association Study of Interleukin 18 Receptor Genes (IL18R1 and IL18RAP) in Lumbar Disc Degeneration. Open Orthop J. 2012;6:164-71. doi: 10.2174/1874325001206010164. Epub 2012 Apr 20.

Eike MC, Skinningsrud B, Ronninger M, Stormyr A, Kvien TK, Joner G, Njølstad PR, Førre O, Flatø B, Alfredsson L, Padyukov L, Undlien DE, Lie BA. CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations. Genes Immun. 2012 Jul;13(5):431-6. doi: 10.1038/gene.2012.11. Epub 2012 Apr 19.

Ronninger M, Seddighzadeh M, Eike MC, Plant D, Daha NA, Skinningsrud B, Worthington J, Kvien TK, Toes RE, Lie BA, Alfredsson L, Padyukov L. Interaction analysis between HLA-DRB1 shared epitope alleles and MHC class II transactivator CIITA gene with regard to risk of rheumatoid arthritis. PLoS One. 2012;7(3):e32861. doi: 10.1371/journal.pone.0032861. Epub 2012 Mar 26.

Nordang GB, Viken MK, Amundsen SS, Sanchez ES, Flatø B, Førre OT, Martin J, Kvien TK, Lie BA. Interferon regulatory factor 5 gene polymorphism confers risk to several rheumatic diseases and correlates with expression of alternative thymic transcripts. Rheumatology (Oxford). 2012 Apr;51(4):619-26.

Hov JR, Kosmoliaptsis V, Traherne JA, Olsson M, Boberg KM, Bergquist A, Schrumpf E, Bradley JA, Taylor CJ, Lie BA, Trowsdale J, Karlsen TH. Electrostatic modifications of the human leukocyte antigen-DR P9 peptide-binding pocket and susceptibility to primary sclerosing cholangitis. Hepatology 2011, 53, 1967-1976.

Mero IL, Ban M, Lorentzen ÅR, Smestad C, Celius EG, Sæther H, Saeedi H, Viken MK, Skinningsrud B, Undlien DE, Aarseth J, Myhr KM, Granum S, Spurkland A, Sawcer S, Compston A, Lie BA, Harbo HF. Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus. Genes Immun 2011, 12, 191-198.

Søndergaard HB, Sellebjerg F, Hillert J, Olsson T, Kockum I, Lindén M, Mero IL, Myhr KM, Celius EG, Harbo HF, Christensen JR, Börnsen L, Sørensen PS, Oturai AB. Alterations in KLRB1 gene expression and a Scandinavian multiple sclerosis association study of the KLRB1 SNP rs4763655. Eur J Hum Genet 2011,  May 25. [Epub ahead of print].

International Multiple Sclerosis Genetics Consortium. The genetic association of variants in CD6, TNFRSF1A and IRF8 to multiple sclerosis: a multicenter case-control study. PLoS One. 2011, 6, e18813.

International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium 2, Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, Potter SC, Goris A, Band G, Oturai AB, Strange A, Saarela J, Bellenguez C, Fontaine B, Gillman M, Hemmer B, Gwilliam R, Zipp F, Jayakumar A, Martin R, Leslie S, Hawkins S, Giannoulatou E, D'alfonso S, Blackburn H, Martinelli Boneschi F, Liddle J, Harbo HF, Perez ML, Spurkland A, Waller MJ, Mycko MP, Ricketts M, Comabella M, Hammond N, Kockum I, McCann OT, Ban M, Whittaker P, Kemppinen A, Weston P, Hawkins C, Widaa S, Zajicek J, Dronov S, Robertson N, Bumpstead SJ, Barcellos LF, Ravindrarajah R, Abraham R, Alfredsson L, Ardlie K, Aubin C, Baker A, Baker K, Baranzini SE, Bergamaschi L, Bergamaschi R, Bernstein A, Berthele A, Boggild M, Bradfield JP, Brassat D, Broadley SA, Buck D, Butzkueven H, Capra R, Carroll WM, Cavalla P, Celius EG, Cepok S, Chiavacci R, Clerget-Darpoux F, Clysters K, Comi G, Cossburn M, Cournu-Rebeix I, Cox MB, Cozen W, Cree BA, Cross AH, Cusi D, Daly MJ, Davis E, de Bakker PI, Debouverie M, D'hooghe MB, Dixon K, Dobosi R, Dubois B, Ellinghaus D, Elovaara I, Esposito F, Fontenille C, Foote S, Franke A, Galimberti D, Ghezzi A, Glessner J, Gomez R, Gout O, Graham C, Grant SF, Guerini FR, Hakonarson H, Hall P, Hamsten A, Hartung HP, Heard RN, Heath S, Hobart J, Hoshi M, Infante-Duarte C, Ingram G, Ingram W, Islam T, Jagodic M, Kabesch M, Kermode AG, Kilpatrick TJ, Kim C, Klopp N, Koivisto K, Larsson M, Lathrop M, Lechner-Scott JS, Leone MA, Leppä V, Liljedahl U, Bomfim IL, Lincoln RR, Link J, Liu J, Lorentzen AR, Lupoli S, Macciardi F, Mack T, Marriott M, Martinelli V, Mason D, McCauley JL, Mentch F, Mero IL, Mihalova T, Montalban X, Mottershead J, Myhr KM, Naldi P, Ollier W, Page A, Palotie A, Pelletier J, Piccio L, Pickersgill T, Piehl F, Pobywajlo S, Quach HL, Ramsay PP, Reunanen M, Reynolds R, Rioux JD, Rodegher M, Roesner S, Rubio JP, Rückert IM, Salvetti M, Salvi E, Santaniello A, Schaefer CA, Schreiber S, Schulze C, Scott RJ, Sellebjerg F, Selmaj KW, Sexton D, Shen L, Simms-Acuna B, Skidmore S, Sleiman PM, Smestad C, Sørensen PS, Søndergaard HB, Stankovich J, Strange RC, Sulonen AM, Sundqvist E, Syvänen AC, Taddeo F, Taylor B, Blackwell JM, Tienari P, Bramon E, Tourbah A, Brown MA, Tronczynska E, Casas JP, Tubridy N, Corvin A, Vickery J, Jankowski J, Villoslada P, Markus HS, Wang K, Mathew CG, Wason J, Palmer CN, Wichmann HE, Plomin R, Willoughby E, Rautanen A, Winkelmann J, Wittig M, Trembath RC, Yaouanq J, Viswanathan AC, Zhang H, Wood NW, Zuvich R, Deloukas P, Langford C, Duncanson A, Oksenberg JR, Pericak-Vance MA, Haines JL, Olsson T, Hillert J, Ivinson AJ, De Jager PL, Peltonen L, Stewart GJ, Hafler DA, Hauser SL, McVean G, Donnelly P, Compston A. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature. 2011 Aug 10;476(7359):214-9.

Rodríguez-Rodríguez L, Wan Taib WR, Topless R, Steer S, González-Escribano MF, Balsa A, Pascual-Salcedo D, González-Gay MA, Raya E, Fernandez-Gutierrez B, González-Álvaro I, Bottini N, Witte T, Viken MK, Coenen MJ, van Riel PL, Franke B, den Heijer M, Radstake TR, Wordsworth P, Lie BA, Merriman TR, Martín J. The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in caucasian case-control samples. Arthritis Rheum, 2010 Nov 15. [Epub ahead of print].

Hov JR, Keitel V, Laerdahl JK, Spomer L, Ellinghaus E, ElSharawy A, Melum E, Boberg KM, Manke T, Balschun T, Schramm C, Bergquist A, Weismüller T, Gotthardt D, Rust C, Henckaerts L, Onnie CM, Weersma RK, Sterneck M, Teufel A, Runz H, Stiehl A, Ponsioen CY, Wijmenga C, Vatn MH; IBSEN Study Group, Stokkers PC, Vermeire S, Mathew CG, Lie BA, Beuers U, Manns MP, Schreiber S, Schrumpf E, Häussinger D, Franke A, Karlsen TH. Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis. PLoS One 2010, 5, e12403.

Lorentzen AR, Melum E, Ellinghaus E, Smestad C, Mero IL, Aarseth JH, Myhr KM, Celius EG, Lie BA, Karlsen TH, Franke A, Harbo HF. Association to the Glypican-5 gene in multiple sclerosis. J Neuroimmunol 2010, 226, 194-197.

Karlsen TH, Franke A, Melum E, Kaser A, Hov JR, Balschun T, Lie BA, Bergquist A, Schramm C, Weismüller TJ, Gotthardt D, Rust C, Philipp EE, Fritz T, Henckaerts L, Weersma RK, Stokkers P, Ponsioen CY, Wijmenga C, Sterneck M, Nothnagel M, Hampe J, Teufel A, Runz H, Rosenstiel P, Stiehl A, Vermeire S, Beuers U, Manns MP, Schrumpf E, Boberg KM, Schreiber S. Genome-wide association analysis in primary sclerosing cholangitis. Gastroenterology 2010, 138, 1102-1111.

Link J, Lorentzen AR, Kockum I, Duvefelt K, Lie BA, Celius EG, Harbo HF, Hillert J, Brynedal B. Two HLA class I genes independently associated with multiple sclerosis. J Neuroimmunol 2010, 226, 172-176.

Sanner H, Kirkhus E, Merckoll E, Tollisen A, Røisland M, Lie BA, Taraldsrud E, Gran JT, Flatø B. Long-term muscular outcome and predisposing and prognostic factors in juvenile dermatomyositis: A case-control study. Arthritis Care Res, 2010, 62, 1103-1111.

Hollenbach JA, Meenagh A, Sleator C, Alaez C, Bengoche M, Canossi A, Contreras G, Creary L, Evseeva I, Gorodezky C, Hardie RA, Karlsen TH, Lie B, Luo M, Martinetti M, Navarette C, de Oliveira DC, Ozzella G, Pasi A, Pavlova E, Pinto S, Porto LC, Santos P, Slavcev A, Srinak D, Tavoularis S, Tonks S, Trachtenberg E, Vejbaesya S, Middleton D. Report from the killer immunoglobulin-like receptor (KIR) anthropology component of the 15th International Histocompatibility Workshop: worldwide variation in the KIR loci and further evidence for the co-evolution of KIR and HLA. Tissue Antigens 2010, 76, 9-17.

van der Woude D, Lie BA, Lundström E, Balsa A, Feitsma AL, Houwing-Duistermaat JJ, Verduijn W, Nordang GB, Alfredsson L, Klareskog L, Pascual-Salcedo D, Gonzalez-Gay MA, Lopez-Nevot MA, Valero F, Roep BO, Huizinga TW, Kvien TK, Martín J, Padyukov L, de Vries RR, Toes RE. Protection against anti-citrullinated protein antibody-positive rheumatoid arthritis is predominantly associated with HLA-DRB1*1301: a meta-analysis of HLA-DRB1 associations with anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis in four European populations. Arthritis Rheum 2010, 62, 1236-1245.

Beyeen AD, Adzemovic MZ, Ockinger J, Stridh P, Becanovic K, Laaksonen H, Lassmann H, Harris RA, Hillert J, Alfredsson L, Celius EG, Harbo HF, Kockum I, Jagodic M, Olsson T. IL-22RA2 associates with multiple sclerosis and macrophage effector mechanisms in experimental neuroinflammation. J Immunol 2010, 185, 6883-90.

International Multiple Sclerosis Genetics Conssortium (IMSGC). IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci. Genes Immun 2010, 11, 397-405.

International Multiple Sclerosis Genetics Consortium (IMSGC), Booth DR, Heard RN, Stewart GJ, Cox M, Scott RJ, Lechner-Scott J, Goris A, Dobosi R, Dubois B, Saarela J, Leppä V, Peltonen L, Pirttila T, Cournu-Rebeix I, Fontaine B, Bergamaschi L, D'Alfonso S, Leone M, Lorentzen AR, Harbo HF, Celius EG, Spurkland A, Link J, Kockum I, Olsson T, Hillert J, Ban M, Baker A, Kemppinen A, Sawcer S, Compston A, Robertson NP, De Jager PL, Hafler DA, Barcellos LF, Ivinson AJ, McCauley JL, Pericak-Vance MA, Oksenberg JR, Hauser SL, Sexton D, Haines J. Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis. Nat Genet 2010, 42, 469-470.

Jakkula E, Leppä V, Sulonen AM, Varilo T, Kallio S, Kemppinen A, Purcell S, Koivisto K, Tienari P, Sumelahti ML, Elovaara I, Pirttilä T, Reunanen M, Aromaa A, Oturai AB, Søndergaard HB, Harbo HF, Mero IL, Gabriel SB, Mirel DB, Hauser SL, Kappos L, Polman C, De Jager PL, Hafler DA, Daly MJ, Palotie A, Saarela J, Peltonen L. Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene. Am J Hum Genet 2010, 86, 285-291.

Nohra R, Beyeen AD, Guo JP, Khademi M, Sundqvist E, Hedreul MT, Sellebjerg F, Smestad C, Oturai AB, Harbo HF, Wallström E, Hillert J, Alfredsson L, Kockum I, Jagodic M, Lorentzen J, Olsson T. RGMA and IL21R show association with experimental inflammation and multiple sclerosis. Genes Immun 2010, 11, 279-293.

Harbo HF, Riccio ME, Lorentzen AR, Utsi E, Myhr KM, Mellgren SI, Flåm ST, Thorsby E, Sanchez-Mazas A, Lie BA. Norwegian Sami differs significantly from other Norwegians according to their HLA profile. Tissue Antigens 2010, 75, 207-217.

Mero IL, Lorentzen AR, Ban M, Smestad C, Celius EG, Aarseth JH, Myhr KM, Link J, Hillert J, Olsson T, Kockum I, Masterman T, Oturai AB, Søndergaard HB, Sellebjerg F, Saarela J, Kemppinen A, Elovaara I, Spurkland A, Dudbridge F, Lie BA, Harbo HF. A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis. Eur J Hum Genet 2010,  18, 502-504.

Skinningsrud B, Lie BA, Husebye ES, Kvien TK, Førre Ø, Flatø B, Stormyr A, Joner G, Njølstad PR, Egeland T, Undlien DE. A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis. Ann Rheum Dis 2010, 69, 1471-1474.

Ramagopalan SV, Link J, Byrnes JK, Dyment DA, Giovannoni G, Hintzen RQ, Sundqvist E, Kockum I, Smestad C, Lie BA, Harbo HF, Padyukov L, Alfredsson L, Olsson T, Sadovnick AD, Hillert J, Ebers GC. HLA-DRB1 and month of birth in multiple sclerosis. Neurology 2009, 73, 2107-2111.

Lorentzen AR, Karlsen TH, Olsson M, Smestad C, Mero IL, Woldseth B, Sun JY, Senitzer D, Celius EG, Thorsby E, Spurkland A, Lie BA, Harbo HF. Killer immunoglobulin-like receptor ligand HLA-Bw4 protects against multiple sclerosis. Ann Neurol 2009, 65, 658-666.

Nordang GB, Viken MK, Hollis-Moffatt JE, Merriman TR, Førre ØT, Helgetveit K, Kvien TK, Lie BA. Association analysis of the interleukin 17A gene in Caucasian rheumatoid arthritis patients from Norway and New Zealand. Rheumatology 2009, 48, 367-370.

Magitta NF, Bøe Wolff AS, Johansson S, Skinningsrud B, Lie BA, Myhr KM, Undlien DE, Joner G, Njølstad PR, Kvien TK, Førre Ø, Knappskog PM, Husebye ES. A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes Immun 2009, 10, 120-124.

Yu X, Wieczorek S, Franke A, Yin H, Pierer M, Sina C, Karlsen TH, Boberg KM, Bergquist A, Kunz M, Witte T, Gross WL, Epplen JT, Alarcón-Riquelme ME, Schreiber S, Ibrahim SM. Association of UCP2 -866 G/A polymorphism with chronic inflammatory diseases. Genes Immun 2009, 10, 601-605.

Ban M, Goris A, Lorentzen AR, Baker A, Mihalova T, Ingram G, Booth DR, Heard RN, Stewart GJ, Bogaert E, Dubois B, Harbo HF, Celius EG, Spurkland A, Strange R, Hawkins C, Robertson NP, Dudbridge F, Wason J, De Jager PL, Hafler D, Rioux JD, Ivinson AJ, McCauley JL, Pericak-Vance M, Oksenberg JR, Hauser SL, Sexton D, Haines J, Sawcer S; Wellcome Trust Case-Control Consortium (WTCCC), Compston A. Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor. Eur J Hum Genet 2009, 17, 1309-1313.

Kallio SP, Jakkula E, Purcell S, Suvela M, Koivisto K, Tienari PJ, Elovaara I, Pirttilä T, Reunanen M, Bronnikov D, Viander M, Meri S, Hillert J, Lundmark F, Harbo HF, Lorentzen AR, De Jager PL, Daly MJ, Hafler DA, Palotie A, Peltonen L, Saarela J. Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS. Hum Mol Genet 2009, 18, 1670-1683.

Kemppinen A, Suvela M, Tienari PJ, Elovaara I, Koivisto K, Pirttilä T, Reunanen M, Rautakorpi I, Hillert J, Lundmark F, Oturai A, Ryder L, Harbo HF, Celius EG, Palotie A, Daly M, Peltonen L, Saarela J. MYO9B polymorphisms in multiple sclerosis. Eur J Hum Genet 2009, 17, 840-843.

International Multiple Sclerosis Genetics Consortium (IMSGC). The expanding genetic overlap between multiple sclerosis and type I diabetes. Genes Immun 2009, 10, 11-14.

Jagodic M, Colacios C, Nohra R, Dejean AS, Beyeen AD, Khademi M, Casemayou A, Lamouroux L, Duthoit C, Papapietro O, Sjöholm L, Bernard I, Lagrange D, Dahlman I, Lundmark F, Oturai AB, Soendergaard HB, Kemppinen A, Saarela J, Tienari PJ, Harbo HF, Spurkland A, Ramagopalan SV, Sadovnick DA, Ebers GC, Seddighzadeh M, Klareskog L, Alfredsson L, Padyukov L, Hillert J, Clanet M, Edan G, Fontaine B, Fournié GJ, Kockum I, Saoudi A, Olsson T. A role for VAV1 in experimental autoimmune encephalomyelitis and multiple sclerosis. Sci Transl Med 2009, 1, 10ra21.

Melum E, Karlsen TH, Schrumpf E, Bergquist A, Thorsby E, Boberg KM, Lie BA. Cholangiocarcinoma in primary sclerosing cholangitis is associated with NKG2D polymorphisms. Hepatology 2008, 47, 90-96.

Franke A, Balschun T, Karlsen TH, Sventoraityte J, Nikolaus S, Mayr G, Domingues FS, Albrecht M, Nothnagel M, Ellinghaus D, Sina C, Onnie CM, Weersma RK, Stokkers PC, Wijmenga C, Gazouli M, Strachan D, McArdle WL, Vermeire S, Rutgeerts P, Rosenstiel P, Krawczak M, Vatn MH; IBSEN study group, Mathew CG, Schreiber S. Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet 2008, 40, 1319-1323.

Eike MC, Nordang GB, Karlsen TH, Boberg KM, Vatn MH; IBSEN study group, Dahl-Jørgensen K, Rønningen KS, Joner G, Flatø B, Bergquist A, Thorsby E, Førre O, Kvien TK, Undlien DE, Lie BA. The FCRL3 -169T>C polymorphism is associated with polyarticular juvenile idiopathic arthritis and rheumatoid arthritis in a Scandinavian panel of autoimmune diseases. Ann Rheum Dis 2008, 67, 1287-1291.

Lorentzen AR, Smestad C, Lie BA, Oturai AB, Akesson E, Saarela J, Myhr KM, Vartdal F, Celius EG, Sørensen PS, Hillert J, Spurkland A, Harbo HF. The SH2D2A gene and susceptibility to multiple sclerosis. J Neuroimmunol 2008, 197, 152-158.

Melum E, Buch S, Schafmayer C, Kalthoff H, Tepel J, Schreiber S, Karlsen TH, Hampe J. Investigation of cholangiocarcinoma associated NKG2D polymorphisms in colorectal carcinoma. Int J Cancer 2008, 123, 241-242.

Melum E, Karlsen TH, Bergquist A, Schrumpf E, Boberg KM. An interleukin-6 (IL-6) receptor polymorphism affecting serum levels of IL-6 does not increase the risk of cholangiocarcinoma in primary sclerosing cholangitis. Am J Gastroenterol 2008, 103, 1045.

International Multiple Sclerosis Genetics Consortium (IMSGC). Refining genetic associations in multiple sclerosis. Lancet Neurol 2008, 7, 567-9.

Harbo HF, Utsi E, Lorentzen AR, Kampman MT, Celius EG, Myhr KM, Lie BA, Mellgren SI, Thorsby E. Low frequency of the disease-associated DRB1*15-DQB1*06 haplotype may contribute to the low prevalence of multiple sclerosis in Sami. Tissue Antigens 2007, 69, 299-304.

Wiencke K, Karlsen TH, Boberg KM, Thorsby E, Schrumpf E, Lie BA, Spurkland A. Primary sclerosing cholangitis is associated with extended HLA-DR3 and HLA-DR6 haplotypes. Tissue Antigens 2007, 69, 161-9.

Karlsen TH, Boberg KM, Olsson M, Sun J-Y, Senitzer D, Bergquist A, Schrumpf E, Thorsby E, Lie BA. Particular genetic variants of ligands for natural killer cell receptors may contribute to the HLA associated risk of primary sclerosing cholangitis. J Hepatol 2007, 46, 899-906.

Karlsen TH, Boberg KM, Vatn M, Bergquist A,  Hampe J, Schrumpf E, Thorsby E, Schreiber S, Lie BA; IBSEN Study Group. Different HLA class II associations in ulcerative colitis patients with and without primary sclerosing cholangitis. Genes Immun 2007, 8, 275-8.

Karlsen TH, Hampe J, Wiencke K, Schrumpf E, Thorsby E, Lie BA, Broome U, Schreiber S, Boberg KM. Genetic polymorphisms associated with inflammatory bowel disease do not confer risk for primary sclerosing cholangitis. Am J Gastroenterol 2007, 102, 115-21.

Lundmark F, Duvefelt K, Iacobaeus E, Kockum I, Wallstrom E, Khademi M, Oturai A, Ryder LP, Saarela J, Harbo HF, Celius EG, Salter H, Olsson T, Hillert J. Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis. Nat Genet 2007, 39, 1108-13.

Lindner E, Nordang GB, Melum E, Flato B, Selvaag AM, Thorsby E, Kvien TK, Forre OT, Lie BA. Lack of association between the chemokine receptor 5 polymorphism CCR5delta32 in rheumatoid arthritis and juvenile idiopathic arthritis. BMC Med Genet 2007, 12, 8:33.

Lie BA, Viken MK, Akselsen HE, Flam ST, Pociot F, Nerup J, Kockum I, Cambon-Thomsen A, Thorsby E, Undlien DE. Association analysis in type 1 diabetes of the PRSS16 gene encoding a thymus-specific serine protease. Hum Immunol 2007, 68, 592-598.

Viken MK, Olsson M, Flåm ST, Førre Ø, Kvien TK, Thorsby E, Lie BA. The PTPN22 promoter polymorphism -1123G>C association cannot be distinguished from the 1858C>T association in a Norwegian rheumatoid arthritis material. Tissue Antigens 2007, 70, 190-7.

Viken MK, Sollid HD, Joner G, Dahl-Jorgensen K, Ronningen KS, Undlien DE, Flato B, Selvaag AM, Førre Ø, Kvien TK, Thorsby E, Melms A, Tolosa E, Lie BA. Polymorphisms in the cathepsin L2 (CTSL2) gene show association with type 1 diabetes and early-onset myasthenia gravis. Hum Immunol 2007, 68, 748-755.

Lorentzen AR, Smestad C, Lie BA, Oturai AB, Akesson E, Saarela J, Myhr KM, Vartdal F, Celius EG, Sørensen PS, Hillert J, Spurkland A, Harbo HF. The SH2D2A gene and susceptibility to multiple sclerosis. J Neuroimmunol 2007, 197:152-158.

Harbo HF, Ekstrom PO, Lorentzen AR, Sundvold-Gjerstad V, Celius EG, Sawcer S, Spurkland A. Coding region polymorphisms in T cell signal transduction genes. Prevalence and association to development of multiple sclerosis. J Neuroimmunol 2006, 177, 40-5.

Wiencke K, Boberg KM, Donaldson P, Harbo H, Ling V, Schrumpf E, Spurkland A. No major effect of the CD28/CTLA4/ICOS gene region on susceptibility to primary sclerosing cholangitis. Scand J Gastroenterol 2006, 41, 586-91.

Amundsen SS, Monsuur AJ, Wapenaar MC, Lie BA, Ek J, Gudjónsdóttir AH, Ascher H, Wijmenga C, Sollid LM. Association analysis of MYO9B gene polymorphisms with celiac disease in a Swedish/Norwegian cohort. Hum Immunol 2006, 67, 341-345.

Amundsen SS, Vatn M; IBSEN study group, Wijmenga C, Sollid LM, Lie BA. Association analysis of MYO9B gene polymorphisms and inflammatory bowel disease in a Norwegian cohort. Tissue Antigens 2006, 68, 249-52.

Melum E, Karlsen TH, Broomé U, Thorsby E, Schrumpf E, Boberg KM, Lie BA. The 32-base pair deletion of the chemokine receptor 5 gene (CCR5-Delta32) is not associated with primary sclerosing cholangitis in 363 Scandinavian patients. Tissue Antigens 2006, 68, 78-81.

Karlsen TH, Lie BA, Frey Froslie K, Thorsby E, Broome U, Schrumpf E, Boberg KM. Polymorphisms in the steroid and xenobiotic receptor gene influence survival in primary sclerosing cholangitis. Gastroenterology. 2006 Sep;131(3):781-7.

Lundmark F, Harbo HF, Celius EG, Saarela J, Datta P, Oturai A, Lindgren CM, Masterman T, Salter H, Hillert J. Association analysis of the LAG3 and CD4 genes in multiple sclerosis in two independent populations. J Neuroimmunol. 2006 180,193-198.

Bowlus CL, Karlsen TH, Broome U, Thorsby E, Vatn M, Schrumpf E, Lie BA, Boberg KM. Analysis of MAdCAM-1 and ICAM-1 polymorphisms in 365 Scandinavian patients with primary sclerosing cholangitis. J Hepatol 2006, 45, 704-10.

Smerdel-Ramoya A, Finholt C, Lilleby V, Gilboe IM, Harbo HF, Maslinski S, Førre Ø, Thorsby E, Lie BA. Systemic lupus erythematosus and the extended major histocompatibility complex -- evidence for several predisposing loci. Rheumatol 2005, 44, 1368-73.

Lorentzen AR, Celius EG, Ekstrom PO, Wiencke K, Lie BA, Myhr KM, Ling V, Thorsby E, Vartdal F, Spurkland A, Harbo HF. Lack of association with the CD28/CTLA4/ICOS gene region among Norwegian multiple sclerosis patients. J Neuroimmunol 2005, 166, 197-201.

Viken MK, Amundsen SS, Kvien TK, Boberg KM, Gilboe IM, Lilleby V, Sollid LM, Forre OT, Thorsby E, Smerdel A, Lie BA. Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases. Genes Immun 2005, 6,271-273.

Harbo HF, Lie BA, Sawcer S, Celius EG, Dai K-Z, Oturai A, Hillert J, Lorentzen ÅR, Myhr K-M, Ryder LP, Fredrikson S, Nyland H, Sørensen PS, Sandberg-Wollheim M, Andersen O, Svejgaard A, Edland A, Mellgren SI, Compston A, Vartdal F, Spurkland A. Genes in the HLA class I region may contribute to the HLA class II-associated genetic susceptibility to multiple sclerosis. Tissue Antigens 2004, 63, 237-247.

Wiencke K, Louka AS, Spurkland A, Vatn M, Schrumpf E, Boberg KM; IBSEN Study Group. Association of matrix metalloproteinase-1 and -3 promoter polymorphisms with clinical subsets of Norwegian primary sclerosing cholangitis patients. J Hepatol 2004, 41, 209-14.

Smerdel A, Lie BA, Finholt C, Ploski R, Førre Ø, Undlien DE, Thorsby E. An additional susceptibility gene for juvenile idiopathic arthritis in the HLA class I region on several DR-DQ haplotypes. Tissue Antigens 2003, 61, 80-84.

Johansson S, Lie BA, Todd JA, Pociot F, Nerup J, Cambon-Thomsen A, Kockum I, Akselsen HE, Thorsby E, Undlien DE. Evidence of at least two type 1 diabetes susceptibility genes in the HLA complex distinct from HLA-DQB1, -DQA1 and -DRB1. Genes Immun 2003, 4, 46-53.

Johansson S, Lie BA, Cambon-Thomsen A, Pociot F, Nerup J, Kockum I, Thorsby E, Undlien DE. No evidence of type 1 diabetes susceptibility genes in the region centromeric of the HLA complex. Hum Immunol 2003, 64. 951-959.

Smerdel A, Ploski R, Flatø B, Musiej-Nowakowska E, Thorsby E, Førre Ø. Juvenile idiopathic arthritis (JIA) is primarily associated with HLA-DR8 but not DQ4 on the DR8-DQ4 haplotype. Ann Rheum Dis 2002, 61, 354-357.

Smerdel A, Lie BA, Ploski R, Koeleman BPC, Førre Ø, Thorsby E, Undlien DE. A gene in the telomeric HLA complex distinct from HLA-A is involved in predisposition to juvenile idiopathic arthritis (JIA). Arthritis Rheum 2002, 46, 1614-1619.

Flatø B, Smerdel A, Johnston V, Lien G, Dale K, Vinje O, Egeland T, Sørskaar D, Førre Ø. The influence of patient characteristics, disease variables and HLA alleles on the development of radiographic sacroiliitis in juvenile idiopathic arthritis. Arthritis Rheum 2002, 46, 986-994.

Wiencke K, Spurkland A, Schrumpf E, Boberg KM. Primary Sclerosing Cholangitis Is Associated to an Extended B8-DR3 Haplotype Including Particular MICA and MICB Allele. Hepatology 2001, 34, 625-30.

Spurkland A, Saarinen S, Boberg KM, Mitchell S, Broome U, Caballeria L, Ciusani E, Chapman R, Ercilla G, Fausa O, Knutsen I, Pares A, rosina F, Olerup O, Thorsby E, Schrumpf E. HLA class II haplotypes in primary sclerosing cholangitis patients from five European populations. Tissue Antigens 1999, 53, 459-469.

Lie BA, Sollid LM, Ascher H, Ek J, Akselsen HE, Rønningen KS, Thorsby E, Undlien DE. A gene telomeric of the HLA class I region is involved in predisposition to both type I diabetes and coeliac disease. Tissue Antigens 1999, 54, 162-168.

Lie BA, Todd JA, Pociot F, Nerup J, Akselsen HE, Joner G, Dahl-Jørgensen K, Rønningen KS, Thorsby E, Undlien DE. The predisposition to type 1 diabetes linked to the human leukocyte antigen complex includes at least one non-class II gene. Am J Human Genet 1999, 64, 793-800.

Undlien DE, Akselsen HE, Joner G, Dahl-Jørgensen K, Søvik O, Rønningen KS, Thorsby E. No independent associations of LMP2 and LMP7 polymorphisms with susceptibility to develop IDDM. Diabetes 1997, 46, 307-312.

Undlien DE, Friede T, Rammensee H-G, Joner G, Dahl-Jørgensen K, Søvik O, Akselsen HE, Knutsen I, Rønningen KS, Thorsby E. HLA-encoded genetic predisposition in IDDM. DR4 subtypes may be associated with different degrees of protection. Diabetes 1997, 46, 143-149.

Spurkland A, Celius EG, Knutsen I, Beiske A, Thorsby E, Vartdal F. The HLA-DQ(a1*0102, b1*0602) heterodimer may confer susceptibility to multiple sclerosis in the absence of the HLA-DR(a1*01, b*1501) heterodimer. Tissue Antigens 1997, 50, 15-22.

Lie BA, Akselsen HE, Joner G, Dahl-Jørgensen K, Rønningen KS, Thorsby E, Undlien DE. HLA association in insulin-dependent diabetes mellitus: no independent association to particular DP genes. Human Immunology 1997, 55, 170-175.

Spurkland A, Ingvarsson G, Falk ES, Knutsen I, Sollid LM, Thorsby E. Dermatitis herpetiformis and celiac disease are both primarily associated with the HLA-DQ (a1*0501, b1*02) or the HLA-DQ(a1*03, b1*0302) heterodimers. Tissue Antigens 1997, 49, 29-34.